KEGG   DISEASE: Leukoencephalopathy with vanishing white matter
Entry
H00869                      Disease                                

Name
Leukoencephalopathy with vanishing white matter;
Vanishing white matter disease;
Childhood ataxia with diffuse central nervous system hypomyelination (CACH);
Cree leukoencephalopathy (CLE)
  Subgroup
Ovarioleukodystrophy [DS:H02200]
Description
Leukoencephalopathy with vanishing white matter (VWM), also referred to as childhood ataxia with diffuse central nervous system hypomyelination (CACH), is one of the most prevalent inherited childhood disorders of cerebral white matter. This autosomal recessive progressive neurological disorder usually begins in early childhood, but a wide spectrum of clinical severity is now recognized from fatal infantile forms such as Cree leukoencephalopathy to mild later-onset forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any of the 5 genes encoding the eukaryotic translation initiation factor eIF2B. Mutated eIF2B could impair the ability of cells to regulate protein synthesis, especially under conditions of cell stress.
Category
Nervous system disease; Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00869  Leukoencephalopathy with vanishing white matter
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00869  Leukoencephalopathy with vanishing white matter
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Multiple sclerosis or other white matter disorders
   8A44  Leukodystrophies
    H00869  Leukoencephalopathy with vanishing white matter
Related
pathway
hsa03013  RNA transport
Gene
EIF2B1 [HSA:1967] [KO:K03239]
EIF2B2 [HSA:8892] [KO:K03754]
EIF2B3 [HSA:8891] [KO:K03241]
EIF2B4 [HSA:8890] [KO:K03680]
EIF2B5 [HSA:8893] [KO:K03240]
Other DBs
ICD-11: 8A44.3
ICD-10: E75.2
MeSH: D056784
OMIM: 603896
Reference
  Authors
Lyon G, Fattal-Valevski A, Kolodny EH
  Title
Leukodystrophies: clinical and genetic aspects.
  Journal
Top Magn Reson Imaging 17:219-42 (2006)
DOI:10.1097/RMR.0b013e31804c99d4
Reference
  Authors
Pronk JC, van Kollenburg B, Scheper GC, van der Knaap MS
  Title
Vanishing white matter disease: a review with focus on its genetics.
  Journal
Ment Retard Dev Disabil Res Rev 12:123-8 (2006)
DOI:10.1002/mrdd.20104
Reference
  Authors
Bugiani M, Boor I, Powers JM, Scheper GC, van der Knaap MS
  Title
Leukoencephalopathy with vanishing white matter: a review.
  Journal
J Neuropathol Exp Neurol 69:987-96 (2010)
DOI:10.1097/NEN.0b013e3181f2eafa
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